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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-101128436-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=101128436&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 101128436,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000223095.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_000602.5",
"protein_id": "NP_000593.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 402,
"cds_start": 43,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "ENST00000223095.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "ENST00000223095.5",
"protein_id": "ENSP00000223095.4",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 402,
"cds_start": 43,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "NM_000602.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386460.1",
"protein_id": "NP_001373389.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 492,
"cds_start": 43,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386461.1",
"protein_id": "NP_001373390.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 453,
"cds_start": 43,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386459.1",
"protein_id": "NP_001373388.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 427,
"cds_start": 43,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386464.1",
"protein_id": "NP_001373393.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 422,
"cds_start": 43,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386466.1",
"protein_id": "NP_001373395.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 410,
"cds_start": 43,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386458.1",
"protein_id": "NP_001373387.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 409,
"cds_start": 43,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386465.1",
"protein_id": "NP_001373394.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 407,
"cds_start": 43,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Ala13Thr",
"transcript": "NM_001386463.1",
"protein_id": "NP_001373392.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 400,
"cds_start": 37,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr",
"transcript": "NM_001386457.1",
"protein_id": "NP_001373386.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 353,
"cds_start": 43,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.-69-90G>A",
"hgvs_p": null,
"transcript": "NM_001386462.1",
"protein_id": "NP_001373391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"hgvs_c": "c.-32-178G>A",
"hgvs_p": null,
"transcript": "NM_001386456.1",
"protein_id": "NP_001373385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINE1",
"gene_hgnc_id": 8583,
"dbsnp": "rs6092",
"frequency_reference_population": 0.10403353,
"hom_count_reference_population": 9254,
"allele_count_reference_population": 167907,
"gnomad_exomes_af": 0.106462,
"gnomad_genomes_af": 0.0807087,
"gnomad_exomes_ac": 155622,
"gnomad_genomes_ac": 12285,
"gnomad_exomes_homalt": 8589,
"gnomad_genomes_homalt": 665,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0024650394916534424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.362,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1009,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.344,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000223095.5",
"gene_symbol": "SERPINE1",
"hgnc_id": 8583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.43G>A",
"hgvs_p": "p.Ala15Thr"
}
],
"clinvar_disease": "Congenital plasminogen activator inhibitor type 1 deficiency,SERPINE1-related disorder,Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3 O:1",
"phenotype_combined": "Congenital plasminogen activator inhibitor type 1 deficiency|Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process|SERPINE1-related disorder|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}